| Disease ID | Disease name | Source of annotation with DGKE | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| PS256300 | NEPHROTIC SYNDROME | ClinVar, OMIM, HUMSAVAR | link to OMIM | 14 | LAMB2, NUP93, NUP205, NPHS1, OPA1, NPHS2, ADCK4, NUP107, WT1, ARHGDIA, PTPRO, PLCE1, EMP2, DGKE |
| PS235400 | HEMOLYTIC UREMIC SYNDROME | ClinVar, OMIM, HUMSAVAR | link to OMIM | 11 | CFH, CFHR3, CFHR1, BAAT, CFI, THBD, C3AR1, C3, CD46, CFB, DGKE |
Download the gene annotation in CSV format
| KEGG pathway | KEGG ID | KEGG IC |
|---|---|---|
| Phosphatidylinositol signaling system | hsa04070 | 6.38 |
| Glycerolipid metabolism | hsa00561 | 6.91 |
| Choline metabolism in cancer | hsa05231 | 6.09 |
| Metabolic pathways | hsa01100 | 2.49 |
| Glycerophospholipid metabolism | hsa00564 | 6.15 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Signaling by GPCR | R-HSA-372790 | 2.68 |
| GPCR downstream signaling | R-HSA-388396 | 3.07 |
| Platelet activation, signaling and aggregation | R-HSA-76002 | 5.15 |
| Gastrin-CREB signalling pathway via PKC and MAPK | R-HSA-881907 | 4.26 |
| G alpha (q) signalling events | R-HSA-416476 | 5.42 |
| Effects of PIP2 hydrolysis | R-HSA-114508 | 8.34 |
| Hemostasis | R-HSA-109582 | 3.98 |
| Signal Transduction | R-HSA-162582 | 1.78 |
| GO term | GO ID | GO IC |
|---|---|---|
| purine ribonucleoside triphosphate binding | GO:0035639 | 2.22 |
| binding | GO:0005488 | 0.18 |
| ion binding | GO:0043167 | 1.36 |
| heterocyclic compound binding | GO:1901363 | 1.06 |
| nucleoside phosphate binding | GO:1901265 | 1.96 |
| nucleoside binding | GO:0001882 | 2.21 |
| cation binding | GO:0043169 | 1.4 |
| nucleotide binding | GO:0000166 | 1.96 |
| transferase activity | GO:0016740 | 1.95 |
| purine nucleoside binding | GO:0001883 | 2.22 |
| ribonucleoside binding | GO:0032549 | 2.22 |
| purine nucleotide binding | GO:0017076 | 2.19 |
| metal ion binding | GO:0046872 | 1.41 |
| diacylglycerol kinase activity | GO:0004143 | 7.34 |
| ATP binding | GO:0005524 | 2.43 |
| kinase activity | GO:0016301 | 2.93 |
| small molecule binding | GO:0036094 | 1.89 |
| catalytic activity | GO:0003824 | 1.05 |
| adenyl nucleotide binding | GO:0030554 | 2.4 |
| phosphotransferase activity, alcohol group as acceptor | GO:0016773 | 3.08 |
| organic cyclic compound binding | GO:0097159 | 1.05 |
| carbohydrate derivative binding | GO:0097367 | 2.03 |
| adenyl ribonucleotide binding | GO:0032559 | 2.41 |
| transferase activity, transferring phosphorus-containing groups | GO:0016772 | 2.77 |
| purine ribonucleotide binding | GO:0032555 | 2.2 |
| purine ribonucleoside binding | GO:0032550 | 2.22 |
| ribonucleotide binding | GO:0032553 | 2.19 |